Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.Q3230E

AHNAK2

380 papers

RefSeq Summary

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-ter...

Gene Aliases

HGNC Name

AHNAK nucleoprotein 2

HGNC Previous Symbol

C14orf78

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138420.4
p.Q3230E
c.9688C>G
Surrounding Variants
4 papers
NM_138420.4
p.R3241H
c.9722G>A
8 papers
NM_138420.4
p.L3217P
c.9650T>C
1 paper
NM_138420.4
p.D3247G
c.9740A>G
5 papers
NM_138420.4
p.V3209L
c.9625G>T
6 papers
NM_138420.4
p.V3209L
c.9625G>C
1 paper
NM_138420.4
p.P3251delFs
c.9753delG
1 paper
NM_138420.4
p.V3202G
c.9605T>G
3 papers
NM_138420.4
p.M3260T
c.9779T>C
1 paper
NM_138420.4
p.D3261D
c.9783T>C
1 paper
NM_138420.4
p.T3263M
c.9788C>T
1 paper
NM_138420.4
p.P3265S
c.9793C>T
1 paper
NM_138420.4
p.E3194Q
c.9580G>C
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